Lymphangiography and Chromosome Studies in Females with Lymphoedema and Possible Ovarian Dysgenesis

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Abstract
Seven phenotypic females with lymphedema were investigated. Six were considered to have ovarian dysgenesis, the sex chromosomal complement being XO in 5, and XY, without evidence of chromosome mosaicism, in 1. No diagnosis was made in the 7th patient, whose sex chromosome complement was XY. All 7 patients had hypoplasia or aplasia of the superficial lymphatic vessels of the legs. In addition, 2 patients had anomalous lymphatic vessels connecting the hypoplastic superficial lymphatic vessels to the deep system. It is tentatively suggested that these channels may contribute towards the disappearance of edema in patients with gonadal dysgenesis.

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